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rs80357578

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;A) 6 BRCA1 variant considered pathogenic for breast cancer
(A;A) 0 common in clinvar


Make rs80357578(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091795
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357578
ebirs80357578
HLIrs80357578
Exacrs80357578
Varsomers80357578
Maprs80357578
PheGenIrs80357578
hapmaprs80357578
1000 genomesrs80357578
hgdprs80357578
ensemblrs80357578
gopubmedrs80357578
geneviewrs80357578
scholarrs80357578
googlers80357578
pharmgkbrs80357578
gwascentralrs80357578
openSNPrs80357578
23andMers80357578
23andMe allrs80357578
SNP Nexus

SNPshotrs80357578
SNPdbers80357578
MSV3drs80357578
GWAS Ctlgrs80357578
Max Magnitude6
rs80357578, also known as 3855delA, c.3736_3736delA and p.Thr1246Profs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357578(;)
Alt rs80357578(;)
Reference rs80357578(A;A)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41243812delT
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048307.2, RCV000112167.1,